Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1003540	0.92[ASW][hapmap]
rs10166942	0.92[ASW][hapmap]
rs10189040	0.83[ASW][hapmap];0.87[GIH][hapmap];0.83[MEX][hapmap]
rs10929319	0.92[ASW][hapmap];0.87[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.82[AFR][1000 genomes]
rs11563060	0.87[CEU][hapmap];0.82[AFR][1000 genomes]
rs11563216	0.85[ASW][hapmap];0.87[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.81[AFR][1000 genomes]
rs2108809	0.85[ASW][hapmap];0.87[CEU][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap]
rs2215173	0.87[CEU][hapmap];0.81[AFR][1000 genomes]
rs2362290	0.92[ASW][hapmap]
rs28946911	0.87[CEU][hapmap]
rs28953468	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4663988	0.92[ASW][hapmap];0.87[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.85[AFR][1000 genomes]
rs4663990	0.87[CEU][hapmap];0.81[AFR][1000 genomes]
rs6431648	0.83[ASW][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap]
rs6711120	0.85[GIH][hapmap];0.83[MEX][hapmap]
rs6712893	0.86[ASN][1000 genomes]
rs6738375	0.87[CEU][hapmap]
rs6740118	0.92[ASW][hapmap];0.87[CEU][hapmap];0.91[GIH][hapmap];0.86[MEX][hapmap];0.82[AFR][1000 genomes]
rs758275	0.83[ASW][hapmap];0.87[GIH][hapmap];0.83[MEX][hapmap]
rs758276	0.83[ASW][hapmap];0.87[GIH][hapmap]
rs7597012	0.87[CEU][hapmap];0.82[AFR][1000 genomes]
rs887065	0.87[CEU][hapmap]
rs917435	0.87[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10490014	SH3BP4	cis	parietal	SCAN
rs10490014	SCARNA6	cis	cerebellum	SCAN
rs10490014	DIS3L2	cis	parietal	SCAN
rs10490014	ARL4C	cis	lymphoblastoid	seeQTL
rs10490014	ALS2CL	trans	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234849400-234883400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:234849600-234873800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:234862600-234882200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:234863000-234882200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:234869200-234873400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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